A study is currently underway at TIDE, designed to evaluate the safety and efficacy of a novel treatment for glucose transporter deficiency syndrome (Glut1-DS), a rare genetic epilepsy caused by insufficient transport of sugar into the brain, often resulting in developmental delays. A ketogenic diet is standard treatment but in some cases this does not control the seizures and movement disorder. Triheptanoin/C7 oil could provide an alternative source of fuel for the brain, thereby improving brain function and development. In collaboration with Ultragenyx Inc, the company supplying the investigational drug, the study, designed by the TIDE team, is using innovative trial methodology for rare diseases and has obtained approvals from Health Canada and REB. The first patient was enrolled on April 15th and the next phase protocols for further clinical development of Triheptanoin are currently being planned. If successful, this personalized approach to treating Glut1-DS could serve as a model for eliminating seizures and side effects in other types of hard-to-treat epilepsies.

Who I AmI am a fine art photographer based out of Vancouver. I specialize in photographing lifestyle, fashion, weddings and commercial projects.What I do for TIDEI photograph children and families involved in the TIDE program, in part to document the children’s progress, and to give the families the opportunity to have photos taken together.Why Photographing the Families Makes A Difference I believe that in my small way, I can give the families a gift. It can be a difficult time for the families of a child suffering from a rare disease, like the children we see at the TIDE clinic. But the families are always so appreciative of having photos of them all together.5 Things I Would Take With Me To A Deserted Island• Sun hat• Good book• Surfboard• The love of my life• Good bottle of wine

Who I AmMy name is Marion Thomas. My first career was in equestrian sports where, for many years, I competed at the National and International level three-day eventing. After many years of successful competition, I turned my attention to academics and science, receiving a PhD in Molecular and Cellular Cardiology from Simon Fraser University in 1996.In December of 1998, I moved, with my husband, to Oslo, Norway, where I began my second postdoctoral fellowship in the Department of Anatomy, Faculty of Medicine, University of Oslo.

In 2002, my twins were born, while I was in my third year of my studies in Oslo. In 2004, contract completed, myself and my family moved back to Canada, where I worked as a laboratory manager in the Huntington Research Laboratory. After two years I became interested in the impact that academic research was having on clinical research so I transitioned into my current position as Senior Research Manager in the Department of Medical Genetics, Clinical Division. I currently work in many different capacities assisting clinicians to conduct their research. This includes managing all aspects of the Rare Disease Foundation Microgrant program, organizing rounds for the Genetics & Health Cluster, and last but not least —being involved with the front-running TIDE Team.

Compared to the human reference genome, a single exome can reveal over 120,000 variations. In order to facilitate the discovery of causal variations, filters such as frequency, mutation type, and mode of genetic inheritance are often employed. However, even after filtering for rare non-synonymous mutations, over 50 candidate genes may remain. Manually going over the literature for each gene and matching to the clinical phenotype is time consuming and inefficient. To speed up the process of literature review, Warren Cheung from the Wasserman lab has designed a tool called MeSHOP.

The tool is useful when the researcher has a clinical phenotype in mind and wishes to know what genes are associated with that term. Simply supplied with a MeSH (Medical subject heading) reflecting the clinical phenotype, the program looks at the PubMed articles for each gene and extracts a list of over-represented MeSH terms. It then builds an internal “dictionary” based on that list and evaluates the strength of association between a gene and the input query. For output, the program summarizes a list of ranked genes predicted to be associated to the MeSH input above a chosen statistical threshold.

Sravan J, a PhD student working with Jean Paul Collet, is a passionate collaborator and proponent of personalized medicine. Arriving from India in 2011, with a background in industry, Sravan joined BC Children’s Hospital specifically to work on the TIDE project. His PhD is focused on demonstrating evidence for the efficacy of personalized medicine, a perfect fit with TIDE, which shares the same focus in rare diseases.

While collectively, 5% of the population suffers from a rare disease, separately, each disease and its possible treatment requires individualized care and demonstration of evidence. “Diagnosing children with rare diseases as early as possible not only aids in the development of novel therapies, but also significantly improves their quality of life and that of their families,” Sravan says.

The Medical Post has featured a story on TIDE BC in their November issue "Turning the TIDE for children with Intellectual Disability".

"A group of physicians and scientists at BC Children’s Hospital (BCCH) is dramatically shifting the way diagnosis and treatment of intellectual disability is done. Launched in October 2011, the Treatable Intellectual Disability Endeavour in British Columbia (TIDE-BC) program includes new interventional and therapeutic approaches that are taking children with intellectual disability from fully dependent care to being able to participate in and contribute to society.", the article starts.

Tyler Murphy is the TIDE-BC research assistant with the Division of Neurology. Using the TIDE protocol on a daily basis, Tyler screens for appropriate neurology patients and enrols them into the TIDE study. Tyler has the opportunity to meet many of the families as he obtains their consent and responds to the many questions families have about TIDE and what it might mean for their children. Tyler is also working with Dr. Clara van Karnebeek and Wynona Giannasi to evaluate the TIDE Complex Diagnostic Clinic, determining the costs and benefits of providing care for complex children using an innovative and collaborative model with multiple departments across BC Children’s. Tyler will be presenting this work on behalf of the TIDE team at the upcoming CAPHC Conference later in October.

On the success of TIDE thus far, Tyler comments, “The collaboration between divisions is very positive. My main work is in neurology and I can see the benefit of the relationships that have been created because of TIDE between Neurology and Biochemical Diseases”. No doubt these positive relationships are helping to bridge clinical care and research – to the benefit of patients and families.

A collaborative retreat was held in July 2012 to build momentum on existing achievements supporting individualized medicine and complex care within TIDE. Multidisciplinary clinicians and scientists came together representing expertise in methodology, medical anthropology, care management for children with complex neurodevelopment disorders and rare diseases, individualized medicine, communications and lean management practices. Work was presented out of Drs Jean Paul Collet’s, Osman Ipsiroglu’s, Bill McKellin’s and Clara van Karnebeek’s groups. The impetus of this meeting was two-fold: the need for care delivery models to support personalized care for complex children and the desire for enhanced alignment between TIDE projects with personalized care components. The overall goal is to improve care of children with complex needs.

TIDE BC is about to benefit from the Ph.D. thesis work that will be undertaken by Casper Shyr. Casper, a Ph.D. student from the University of British Columbia, has been awarded three years of funding from the Canadian Institutes of Health Research (CIHR) and will apply his talents to help improve the way clinicians and support staff receive new genetic information so that they can apply this information

Our evidence-based research in 2014 identified 89 rare inborn errors of metabolism, with ID as a major feature, which are potentially treatable. In May 2016 our TIDEX exome study adds to this list with the discovery of new diseases amenable to therapy.

What is TIDE BC?

Tide BC is a new care & research initiative with a focus on prevention and treatment of Intellectual disability (ID). We have shown that the ID seen in some children is due to treatable genetic conditions known as inborn errors of metabolism. Many of these can be treated with diet or drugs.

Our Goal

By improving diagnosis, treatment and care and by using the best of modern day technologies, TIDE BC aims to improve health outcomes of all those affected.

A new Care & Research Initiative

with a focus on prevention & treatment of Intellectual Disability

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Worldwide 2% - 3% of the population suffer ID

That is 800 - 1200 newborns in British Columbia each year...

Time = Brain

Timely diagnosis improves the outcome of children with ID

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